{"Name":"Syringomyelia","DiseaseID__c":"GARD:0007725","id":7725,"encodedName":"syringomyelia","IsDeleted":false,"Disease_Name_Full__c":"Syringomyelia","Xref_IDs__c":"111496009; C0039144; C85179; D013595; DOID:327; HP:0003396; MEDGEN:21449; MONDO:0017987; ORPHA:3280","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017987","Disease_Description__c":"A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis).","GARD_Name__c":"Syringomyelia","GARD_Synonym__c":"fluid-filled cyst in spinal cord; hydromyelia; myelosyringosis; syringomyelia-anesthesia syndrome; syrinx","Curated_Disease_Description_Source__c":"GARD:0007725","Curated_Disease_Description__c":"Syringomyelia is a condition in which a cyst, called a syrinx, forms within the spinal cord. This cyst expands and elongates over time, destroying the center of the spinal cord which can result in pain, weakness, stiffness in the back, shoulders, arms, or legs, headaches, and insensitivity to temperature (especially in the hands). Symptoms vary from person to person. Syringomyelia is often related to a congenital abnormality of the brain called a Chiari I malformation, but may also occur as a complication of trauma, inflammation of the tissue that surrounds the brain and spinal cord (meningitis) such as the inflammation of the arachnoides (arachnoiditis), hemorrhage, or a tumor. Some cases of Syringomyelia are familial, although this is rare.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017987","ORPHANET_ID__c":"ORPHA:3280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Siringomielia","Spanish_Description_Source__c":"ORPHA:3280","Spanish_Description__c":"Es una enfermedad medular poco frecuente caracterizada por la formación de cavidades intramedulares (siringe) llenas de líquido cefalorraquídeo (LCR) como resultado de una obstrucción del flujo de LCR, ya sea en la unión craneocervical (malformación de Chiari) o en el espacio subaracnoideo perimedular (aracnoiditis).","Spanish_Disease_Name__c":"siringomielia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Syringomyelia is a condition in which a cyst, called a syrinx, forms within the spinal cord. This cyst expands and elongates over time, destroying the center of the spinal cord which can result in pain, weakness, stiffness in the back, shoulders, arms, or legs, headaches, and insensitivity to temperature (especially in the hands). Symptoms vary from person to person. Syringomyelia is often related to a congenital abnormality of the brain called a Chiari I malformation, but may also occur as a complication of trauma, inflammation of the tissue that surrounds the brain and spinal cord (meningitis) such as the inflammation of the arachnoides (arachnoiditis), hemorrhage, or a tumor. Some cases of Syringomyelia are familial, although this is rare.","Curated_Disease_Description_Source__c":"GARD:0007725","GARD_Synonym__c":"fluid-filled cyst in spinal cord; hydromyelia; myelosyringosis; syringomyelia-anesthesia syndrome; syrinx","Name":"Syringomyelia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Conquer Chiari","Website__c":"https://www.conquerchiari.org"},{"Account_Name__c":"Christopher and Dana Reeve Foundation","Website__c":"https://www.christopherreeve.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Chiari Argentina","Website__c":"https://chiariargentina.jimdofree.com/"},{"Account_Name__c":"American Syringomyelia & Chiari Alliance Project","Website__c":"https://asap.org/"},{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3280"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013595","Source__c":"C0039144; MONDO:0017987","Xref__c":"D013595"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85179","Source__c":"C0039144; MONDO:0017987","Xref__c":"C85179"},{"URL__c":"https://www.orpha.net/en/disease/detail/3280","Source__c":"C0039144; MONDO:0017987; ORPHA:3280","Xref__c":"ORPHA:3280"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21449","Source__c":"C0039144","Xref__c":"MEDGEN:21449"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111496009","Source__c":"C0039144; MONDO:0017987","Xref__c":"111496009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A327","Source__c":"MONDO:0017987","Xref__c":"DOID:327"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0039144","Source__c":"C0039144","Xref__c":"C0039144"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017987","Source__c":"GARD:0007725","Xref__c":"MONDO:0017987"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003396","Source__c":"C0039144","Xref__c":"HP:0003396"},{"URL__c":"https://medlineplus.gov/syringomyelia.html"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/syringomyelia"}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["fluid-filled cyst in spinal cord"," hydromyelia"," myelosyringosis"," syringomyelia-anesthesia syndrome"," syrinx"],"spanishId":12668,"spanishName":"siringomielia"}